Autism Genetics Network, Phase II: Increasing Representation of Human Diversity

2018

Autism Genetics Network, Phase II: Increasing Representation of Human Diversity PI: Sophie Molholm, Ph.D. Although Autism Spectrum Disorder (ASD) has a multifactorial etiology, it encompasses a large genetic component. We are part of a collaborative effort lead by Daniel Geschwind (at UCLA) to significantly advance understanding of ASD by identifying rare and common ASD susceptibility alleles, defining models of ASD genetic susceptibility, and providing evidence for convergent pathophysiology. With this project we aim to fill a significant gap in ASD research, by recruiting underserved subjects of self-reported African ancestry (African-American; AA), an important population that has not previously been well-represented in ASD genetics research. The Network involves six research sites including Einstein, and the AGRE DCC. We will enrich existing resources by recruiting at least 600 AA probands across sites and their biological parents. An embedded health disparities project seeks to evaluate access to care for AAs with ASD and clarify factors influencing participation of AA individuals in genetic research. The observation of new forms or different population frequencies of ASD-related variation in this sample as well as the sharing of most CNV and SNV with other cohorts are both outcomes that will have great significance for future studies and clinical care. The Network will make all phenotypic and genotype data accessible via the internet on a rolling basis, further enhancing the value of this resource to the community.

Performing Research or Evaluation

Quality Assurance, Education & Early Intervention, Health-Related Activities, Other - Cultural Diversity

Children/Adolescents with Disabilities/SHCN

Racial or Ethnic Minorities, Disadvantaged Circumstances, Geographic Areas, Urban, Specific Groups

National

N/A